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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

LAMB2 Gene

protein-coding GIFtS: 62
GCID: GC03M049133

laminin, beta 2 (laminin S)

(Previous symbol: LAMS)

Explore 55 diseases affiliated with
LAMB2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Laminin, Beta 2 (Laminin S)¹ ²		Laminin-11 Subunit Beta³
LAMS¹ ² ³ ⁵		Laminin-14 Subunit Beta³
Laminin B1s Chain² ³		Laminin-15 Subunit Beta³
S-LAM Beta² ³		Laminin-3 Subunit Beta³
S-Laminin Subunit Beta² ³		Laminin-4 Subunit Beta³
NPHS5²		Laminin-7 Subunit Beta³
Laminin S²		Laminin-9 Subunit Beta³
Laminin Subunit Beta-2²

External Ids:	HGNC: 6487¹	Entrez Gene: 3913²	Ensembl: ENSG00000172037⁷	OMIM: 150325⁵	UniProtKB: P55268³

Export aliases for LAMB2 gene to outside databases

Previous GC identifers: GC03P046915 GC03P048475 GC03M049012 GC03M049117

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for LAMB2:

Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement

membranes. They have been implicated in a wide variety of biological processes including cell adhesion,

differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains:

laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), form a cruciform structure consisting of 3 short

arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain

protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and

gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic

numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions

of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ

with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the beta

chain isoform laminin, beta 2. The beta 2 chain contains the 7 structural domains typical of beta chains of laminin,

including the short alpha region. However, unlike beta 1 chain, beta 2 has a more restricted tissue distribution. It

is enriched in the basement membrane of muscles at the neuromuscular junctions, kidney glomerulus and vascular smooth

muscle. Transgenic mice in which the beta 2 chain gene was inactivated by homologous recombination, showed defects in

the maturation of neuromuscular junctions and impairment of glomerular filtration. Alternative splicing involving a

non consensus 5' splice site (gc) in the 5' UTR of this gene has been reported. It was suggested that inefficient

splicing of this first intron, which does not change the protein sequence, results in a greater abundance of the

unspliced form of the transcript than the spliced form. The full-length nature of the spliced transcript is not known.

(provided by RefSeq, Aug 2011)

UniProtKB/Swiss-Prot: LAMB2_HUMAN, P55268

Function: Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and

organization of cells into tissues during embryonic development by interacting with other extracellular matrix

components

Gene Wiki entry for LAMB2 (Laminin, beta 2)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000003.11 NC_018914.1 NT_022517.18

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the LAMB2 gene promoter:
E2F-4 E2F-3a E2F-1 FOXF2 E2F E2F-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: LAMB2 promoter sequence

Search SABiosciences Chromatin IP Primers for LAMB2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LAMB2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p21 Ensembl cytogenetic band: 3p21.31 HGNC cytogenetic band: 3p21.3-p21.2

LAMB2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LAMB2 gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03M049133: view genomic region (about GC identifiers)

Start:	49,158,547 bp from pter	End:	49,170,599 bp from pter
Size:	12,053 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: LAMB2_HUMAN, P55268 (See protein sequence)

Recommended Name: Laminin subunit beta-2 precursor

Size: 1798 amino acids; 195981 Da

Subunit: Laminin is a complex glycoprotein, consisting of three different polypeptide chains (alpha, beta, gamma),

which are bound to each other by disulfide bonds into a cross-shaped molecule comprising one long and three short arms

with globules at each end. Beta-2 is a subunit of laminin-3 (laminin-121 or S-laminin), laminin-4 (laminin-221 or

S-merosin), laminin-7 (laminin-321 or KS-laminin), laminin-9 (laminin-421), laminin-11 (laminin-521), laminin-14

(laminin-423) and laminin-15 (laminin-523)

Subcellular location: Secreted, extracellular space, extracellular matrix, basement membrane. Note=S-laminin is

concentrated in the synaptic cleft of the neuromuscular junction

Secondary accessions: Q16321

Explore the universe of human proteins at neXtProt for LAMB2: NX_P55268

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P55268

LAMB2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_002283.3

ENSEMBL proteins:

ENSP00000388325 ENSP00000307156 ENSP00000444751

Human Recombinant Protein Products for LAMB2:

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	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005604	basement membrane	IDA	14557481
GO:0005605	basal lamina	TAS	7698745
GO:0005608	laminin-3 complex	IPI	10964500
GO:0019717	synaptosome	--	--

LAMB2 for ontologies About GeneDecksing

LAMB2 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of LAMB2
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	Novus Biologicals LAMB2 Antibodies
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	Browse Antibodies at Uscn
	ThermoFisher Antibodies for LAMB2

Assay Products for LAMB2:

	Browse Kits and Assays available from EMD Millipore
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	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for LAMB2
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

LAMB2 for domains About GeneDecksing

4 InterPro domains/families:

IPR008211 Laminin_N

IPR002049 EGF_laminin

IPR013015 Laminin_IV

IPR013032 EGF-like_CS

Graphical View of Domain Structure for InterPro Entry P55268

ProtoNet protein and cluster: P55268

1 Blocks protein family: IPB002049 Laminin-type EGF-like domain

UniProtKB/Swiss-Prot: LAMB2_HUMAN, P55268

Domain: The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil

structure

Domain: Domains VI and IV are globular

Similarity: Contains 13 laminin EGF-like domains

Similarity: Contains 1 laminin IV type B domain

Similarity: Contains 1 laminin N-terminal domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: LAMB2_HUMAN, P55268

Function: Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and

organization of cells into tissues during embryonic development by interacting with other extracellular matrix

components

Genatlas biochemistry entry for LAMB2:

laminin,beta 2 polypeptide,component of basement membrane of skeletal muscle neuromuscular junction,kidney

glomerulus,nerve fascicle perineurium,vascular smooth muscle,paralog to LAMB1

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005178	integrin binding	IEA	--
GO:0005198	structural molecule activity	NAS	7698745

LAMB2 for ontologies About GeneDecksing

Phenotypes:
9 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Lamb2):

behavior/neurological	cellular	growth/size	homeostasis/metabolism	immune system
mortality/aging	nervous system	renal/urinary system	vision/eye

LAMB2 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Lamb2^tm1Jrs for LAMB2

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for LAMB2

miRNA Products:		OriGene 3'-UTR Clone: LAMB2 Browse MicroRNA Expression Plasmids
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		Sirion Biotech Custom design and validation of potent shRNA sequences against LAMB2

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LAMB2

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/12 super-pathways (see all 12) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Integrin Pathway

Integrin Pathway	1.00	UPA-UPAR Pathway	0.51
FAK1 Signaling	0.67	Transendothelial Migration of Leukocytes	0.38
GnRH Signaling	0.56	Inhibition of Angiogenesis by TSP1	0.37

Rho Family GTPases

Rho Family GTPases	1.00	MAPK Signaling	0.51
ERK Signaling	0.61	ILK Signaling	0.45
Molecular Mechanisms of Cancer	0.51

PTEN Pathway

PTEN Pathway

1.00

Phospholipase-C Pathway

0.56

Focal Adhesion

Focal Adhesion

1.00

Focal adhesion

0.66

Alpha6-Beta4 Integrin Signaling Pathway

Alpha6-Beta4 Integrin Signaling Pathway

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

5/14 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for LAMB2 (see all 14)

	MAPK Signaling
	Molecular Mechanisms of Cancer
	PTEN Pathway
	CDK5 Pathway
	Transendothelial Migration of Leukocytes

3 BioSystems Pathways for LAMB2

	Focal Adhesion
	Alpha6-Beta4 Integrin Signaling Pathway
	Inflammatory Response Pathway

5/6 Kegg Pathways (Kegg details for LAMB2) (see all 6):

	Focal adhesion
	ECM-receptor interaction
	Toxoplasmosis
	Amoebiasis
	Pathways in cancer

LAMB2 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for LAMB2

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/50 Interacting proteins for LAMB2 (P55268^{2, 3} ENSP00000307156⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 50)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ZNF512B	Q96KM6²^,³	MINT-60825 I2D: score=2
PLEKHA5	Q9HAU0³, ENSP00000299275⁴	I2D: score=3 STRING: ENSP00000299275
LAMA1	P25391³, ENSP00000374309⁴	I2D: score=1 STRING: ENSP00000374309
LAMA3	Q16787³, ENSP00000324532⁴	I2D: score=1 STRING: ENSP00000324532
LAMA4	Q16363³, ENSP00000230538⁴	I2D: score=1 STRING: ENSP00000230538

About this table

Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000904	cell morphogenesis involved in differentiation	--	--
GO:0007155	cell adhesion	IEA	--
GO:0007411	axon guidance	IEA	--
GO:0007528	neuromuscular junction development	IEA	--
GO:0007601	visual perception	IEA	--

LAMB2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

LAMB2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for LAMB2
4 Novoseek chemical compound relationships for LAMB2 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
tripeptide	54.4	4	8568518 (1), 1683902 (1), 7875382 (1)
acetylcholine	27.1	2	7595635 (1), 11425875 (1)
heparin	8.62	5	8568518 (1), 9294861 (1)
calcium	0	4	8568518 (1)

Search CenterWatch for drugs/clinical trials and news about LAMB2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for LAMB2 gene:

NM_002292.3

Unigene Cluster for LAMB2:

Laminin, beta 2 (laminin S)

Hs.439726 [show with all ESTs]

Unigene Representative Sequence: NM_002292

18/19 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):

ENST00000467506 ENST00000418109(uc003cwe.3 uc003cwf.1) ENST00000484713

ENST00000305544 ENST00000498377 ENST00000469665 ENST00000477225 ENST00000480640

ENST00000538659 ENST00000542580 ENST00000462930 ENST00000464891 ENST00000483057

ENST00000486298 ENST00000477701 ENST00000493571 ENST00000488638 ENST00000483321

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Additional cDNA sequence:

AK094050.1 S77512.1 X72760.1

19 DOTS entries:

DT.448403 DT.100825203 DT.97787761 DT.85104167 DT.100031014 DT.97821860 DT.100825205 DT.91876035

DT.95229765 DT.95232335 DT.97767595 DT.120921792 DT.95332409 DT.97792696 DT.120921772 DT.85104169

DT.91787263 DT.95087319 DT.91777805

24/443 AceView cDNA sequences (see all 443):

BQ923188 BE008418 BQ920278 BU623752 CB130972 BM772038 BU845654 BM719839

CA417706 BM473201 CD172516 CD672106 BQ681842 BU157581 BM717632 BU157006

F36836 BM674006 CN481457 AW951881 AI371680 BE695029 CF125214 AL042497

GeneLoc Exon Structure

5/21 Alternative Splicing Database (ASD) splice patterns (SP) for LAMB2 (see all 21) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2	^	3a	·	3b	·	3c	^	4	^	5a	·	5b	^	6a	·	6b	^	7	^	8a	·	8b	^	9	^	10	^	11	^	12	^	13	^	14	^	15a	·	15b	^	16	^	17a	·
SP1:
SP2:
SP3:
SP4:
SP5:

ExUns:	17b	^	18a	·	18b	^	19a	·	19b	^	20	^	21a	·	21b	^	22	^	23a	·	23b	^	24a	·	24b	^	25a	·	25b	^	26	^	27	^	28	^	29	^	30a	·	30b	^	31a	·	31b	^	32	^	33	^	34	^
SP1:
SP2:
SP3:
SP4:																			-
SP5:																			-

ExUns:	35	^	36	^	37a	·	37b	·	37c	^	38	^	39	^	40a	·	40b	·	40c	^	41
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for LAMB2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

LAMB2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCTGCCTATG

About this image

LAMB2 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Heart

Atrioventricular Canal

Atrioventricular Canal Cells

Myocardium

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See LAMB2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for LAMB2

SOURCE GeneReport for Unigene cluster: Hs.439726

SABiosciences Custom PCR Arrays for LAMB2

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for LAMB2 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LAMB2

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LAMB2

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for LAMB2 gene from 5/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	LAMB2¹	laminin, beta 2 (laminin S)	66.65(n) 63.05(a)		373980 NM_204166.1 NP_989497.1
lizard (Anolis carolinensis)	Reptilia	LAMB2⁶ -- (see all 3)	--	60(a) 48(a) (see all 3)	possible ortholog possible ortholog (see all 3)	2(188389807-188449510) 2(188478456-188537082)
zebrafish (Danio rerio)	Actinopterygii	lamb2¹	laminin, beta 2 (laminin S)	62.13(n) 60(a)		337767 XM_002666455.1 XP_002666501.1
fruit fly (Drosophila melanogaster)	Insecta	LanB1^{1 , 3}	embryonic morphogenesis³ CG7123-PA¹	39(a)³ 49.15(n)¹ 42.2(a)¹		34068¹ NM_057270.4¹ NP_476618.1¹
worm (Caenorhabditis elegans)	Secernentea	lam-1^{1 , 3}	laminin³ Protein LAM-1¹	38(a)³ 50.28(n)¹ 48.86(a)¹		IV(5173526-5183412)³ 177292¹ NM_068333.2¹ NP_500734.2¹

ENSEMBL Gene Tree for LAMB2 (if available)
TreeFam Gene Tree for LAMB2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for LAMB2 gene

NTN4² LAMA1² NTN5² LAMA3² LAMA2² LAMC1² LAMC2² LAMA5²

NTN3² LAMB3² LAMC3² LAMA4² NTN1² NTNG1² USH2A² LAMB4²

NTNG2² LAMB1²

7 SIMAP similar genes for LAMB2 using alignment to 2 protein entries: LAMB2_HUMAN (see all proteins):

LAMB1 LAMB3 unknown LAMB4 LAMA3 NTN4

NTN1

LAMB2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs145562655^1,2		--	49158342(+)	`TCTAGA/CTAAGG`	5	--	ut5¹ ds500¹		0	--	--	--	--
rs200838685^1,2	C,F	--	49158670(+)	`GCAGGT/GGTTGT`	6	/T /P	mis¹ us2k¹		1		EU	823
rs11550620^1,2	C	--	49158677(+)	`TTGTAA/C/GATCTG`	7	I M	us2k¹ mis¹ syn¹ ese³		2		NA	4
rs193202109^1,2		--	49158707(+)	`TGAAGC/TACGCT`	6	V	us2k¹ syn¹		0	--	--	--	--
rs200137625^1,2		--	49158760(+)	`CTCCAG/TTGCCC`	6	M L	us2k¹ mis¹		0	--	--	--	--
rs74951356^1,2	C,F	--	49158763(+)	`CAGTGC/G/TCCGCT`	7	T P A	us2k¹ mis¹		4		CSA NA EU	5996
rs150654930^1,2	C	--	49158822(+)	`TTAGGC/GGGGGT`	5	--	us2k¹ int¹		0	--	--	--	--
rs115838211^1,2	C	--	49158832(+)	`TTTCCC/TGCAGT`	5	--	us2k¹ int¹		2		WA EU	1441
rs142041381^1,2	C,F	--	49158893(+)	`CTGAGC/TGGCTT`	6	T A	mis¹ us2k¹		1		NA	4550
rs201704175^1,2		--	49158902(+)	`TTGCAA/GCAGGT`	6	L	syn¹ us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for LAMB2 (49158547 - 49170599 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for LAMB2: --
Human Gene Mutation Database (HGMD): LAMB2

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing LAMB2

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

LAMB2 for disorders           About GeneDecksing

OMIM gene information: 150325
OMIM disorders: 609049
UniProtKB/Swiss-Prot: LAMB2_HUMAN, P55268

Defects in LAMB2 are the cause of Pierson syndrome (PIERSS) [MIM:609049]; also known as microcoria-congenital

nephrotic syndrome. Pierson syndrome is characterized by nephrotic syndrome with neonatal onset, diffuse mesangial

sclerosis and eye abnormalities with microcoria as the leading clinical feature. Death usually occurs within the first

weeks of life. Disease severity depends on the mutation type: nontruncating LAMB2 mutations may display variable

phenotypes ranging from a milder variant of Pierson syndrome to isolated congenital nephrotic syndrome

Defects in LAMB2 are the cause of nephrotic syndrome type 5 with or without ocular abnormalities (NPHS5)

[MIM:614199]. NPHS5 is a renal disease characterized clinically by proteinuria, hypoalbuminemia, hyperlipidemia and

edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse

mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage

renal failure. NPHS5 is characterized by very early onset of progressive renal failure. A subset of patients may

develop mild ocular anomalies, such as myopia, nystagmus, and strabismus

20/55 diseases for LAMB2 (see all 55): About MalaCards

nephrosis, congenital, with or without ocular abnormalities walker-warburg syndrome nephrotic syndrome, type 5, with or without ocular abnormalities muscle-eye-brain disease

diffuse mesangial sclerosis end stage renal failure focal segmental glomerulosclerosis mesangial sclerosis

microcoria nephrosis microcoria, congenital muscular dystrophy

pierson syndrome nephrotic syndrome myasthenic syndrome congenital myasthenic syndrome

myasthenia gravis congenital muscular dystrophy cerebellar hypoplasia familial nephrotic syndrome

6 Novoseek disease relationships for LAMB2 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
walker-warburg syndrome	74.7	3	7501167 (2), 9327401 (1)
nephrosis	49.8	2	16912710 (1), 7670489 (1)
muscular dystrophies	48.3	2	9327401 (2)
nephrotic syndrome	33.2	5	16912710 (2), 16898484 (2), 7670489 (1)
metastasis	0	1	9687985 (1)
tumors	0	1	8036181 (1)

Human Genome Epidemiology (HuGE) Navigator: LAMB2 (11 documents)

Export disorders for LAMB2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for LAMB2 gene, integrated from 9 sources (see all 104):
(articles sorted by number of sources associating them with LAMB2)

Utopia: connect your pdf to the dynamic
world of online information

Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. (PubMed id 16912710)^{1, 2, 9} Hasselbacher K.... Hildebrandt F. (2006)
The human laminin beta 2 chain (S-laminin): structure, expression in fetal tissues and chromosomal assignment of the LAMB2 gene. (PubMed id 7795887)^{1, 2, 9} Iivanainen A.... Tryggvason K. (1995)
Human beta 2 chain of laminin (formerly S chain): cDNA cloning, chromosomal localization, and expression in carcinomas. (PubMed id 7698745)^{1, 2, 9} Wewer U.M.... Albrechtsen R. (1994)
A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome. (PubMed id 21236492)^{1, 2} Mohney B.G.... Harris P.C. (2011)
Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. (PubMed id 15367484)^{1, 2} Zenker M.... Reis A. (2004)
Characterization of the human laminin beta2 chain locus (LAMB2): linkage to a gene containing a nonprocessed, transcribed LAMB2-like pseudogene (LAMB2L) and to the gene encoding glutaminyl tRNA synthetase (QARS). (PubMed id 10393422)^{1, 3} Durkin M.E....Wewer U.M. (1999)
A laminin-like adhesive protein concentrated in the synaptic cleft of the neuromuscular junction. (PubMed id 2922051)^{1, 3} Hunter D.D....Sanes J.R. (1989)
[LAMB2 gene mutation as a cause of congenital nephrotic syndrome with distinct eye abnormalities and hypotonia] (PubMed id 16898484)^{1, 9} Zurowska A....Zenker M. (2006)
Identification of a new autoantibody in patients with chronic hepatitis. (PubMed id 15603881)^{1, 9} Fukuda Y....Kato T. (2004)
Selective assembly of laminin variants by human carcinoma cells. (PubMed id 7967523)^{1, 9} Wewer U.M.... Albrechtsen R. (1994)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 3913	HGNC: 6487	AceView: LAMB2	Ensembl:ENSG00000172037	euGenes: HUgn3913
ECgene: LAMB2	Kegg: 3913	H-InvDB: LAMB2

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for LAMB2	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for LAMB2	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LAMB2

Intellectual Property for LAMB2 gene
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Patent Information for LAMB2 gene:
Search GeneIP for patents involving LAMB2

Licensable Technologies for LAMB2 gene:

Tufts University:

Laminins and their functions in nervous systems

GeneCards and IP:
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laminin, beta 2 (laminin S)

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laminin, beta 2 (laminin S)

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